Incidental Mutation 'R7204:Plxnb1'
ID 560455
Institutional Source Beutler Lab
Gene Symbol Plxnb1
Ensembl Gene ENSMUSG00000053646
Gene Name plexin B1
Synonyms 2900002G15Rik
MMRRC Submission 045282-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7204 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 108924457-108948985 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 108929243 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 33 (T33I)
Ref Sequence ENSEMBL: ENSMUSP00000071966 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072093] [ENSMUST00000130366] [ENSMUST00000131462]
AlphaFold Q8CJH3
Predicted Effect probably damaging
Transcript: ENSMUST00000072093
AA Change: T33I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000071966
Gene: ENSMUSG00000053646
AA Change: T33I

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Sema 35 463 5.84e-101 SMART
PSI 481 534 1.17e-13 SMART
PSI 628 678 6.97e-3 SMART
low complexity region 691 706 N/A INTRINSIC
low complexity region 752 771 N/A INTRINSIC
PSI 1019 1066 2.06e-5 SMART
IPT 1067 1158 7.48e-18 SMART
IPT 1159 1247 3.97e-22 SMART
IPT 1249 1359 6.09e-9 SMART
low complexity region 1483 1494 N/A INTRINSIC
Pfam:Plexin_cytopl 1546 2086 6.5e-230 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000130366
AA Change: T33I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114358
Gene: ENSMUSG00000053646
AA Change: T33I

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Sema 35 138 7.5e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000131462
AA Change: T33I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115265
Gene: ENSMUSG00000053646
AA Change: T33I

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Sema 35 138 7.5e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000192988
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 99% (75/76)
MGI Phenotype PHENOTYPE: Homozygous null mutants are viable and fertile and show no apparent defects in development, adult histology or basic functional parameters. However, a transitory renal phenotype, characterized by increased ureteric branching and enlarged kidneys, is noted over early stages of renal development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067K01Rik T C 8: 84,730,636 (GRCm39) S227P probably damaging Het
Acot6 A G 12: 84,153,301 (GRCm39) H181R probably benign Het
Adam15 A T 3: 89,254,244 (GRCm39) H184Q probably benign Het
Agl A G 3: 116,587,469 (GRCm39) F29L probably benign Het
Ak7 A G 12: 105,708,502 (GRCm39) Y319C probably benign Het
Ano8 C A 8: 71,931,669 (GRCm39) V813L probably benign Het
Apbb2 T G 5: 66,608,946 (GRCm39) K234Q probably damaging Het
Arfgef3 A T 10: 18,522,210 (GRCm39) D605E probably damaging Het
Bfsp2 C A 9: 103,309,865 (GRCm39) R340L probably damaging Het
Birc6 C A 17: 74,947,103 (GRCm39) P2956T probably damaging Het
C1rb T C 6: 124,554,386 (GRCm39) I389T probably benign Het
Ccdc146 A G 5: 21,513,624 (GRCm39) F498S probably benign Het
Cdc14b A C 13: 64,358,012 (GRCm39) V361G possibly damaging Het
Cdc25b A T 2: 131,033,552 (GRCm39) I164F probably damaging Het
Col18a1 A G 10: 76,921,110 (GRCm39) S297P unknown Het
Col3a1 A T 1: 45,361,578 (GRCm39) I117F unknown Het
Cox4i2 AG A 2: 152,602,618 (GRCm39) probably null Het
Crybg3 C A 16: 59,379,253 (GRCm39) G667V probably benign Het
Ctc1 A G 11: 68,920,567 (GRCm39) D623G probably damaging Het
Dennd1a A T 2: 37,929,215 (GRCm39) H152Q probably damaging Het
Dgke G A 11: 88,932,306 (GRCm39) P495S probably damaging Het
Dll3 A T 7: 27,998,330 (GRCm39) C212S possibly damaging Het
Dll4 A T 2: 119,159,054 (GRCm39) S235C probably damaging Het
Dnah12 G A 14: 26,500,869 (GRCm39) probably null Het
Dnah12 A T 14: 26,503,442 (GRCm39) T1599S probably damaging Het
Elavl1 G A 8: 4,361,712 (GRCm39) T20M probably damaging Het
Epha3 T C 16: 63,472,695 (GRCm39) T397A probably benign Het
Fanca A T 8: 124,013,216 (GRCm39) I859N probably damaging Het
Fzd1 A T 5: 4,805,980 (GRCm39) V534D probably damaging Het
Glmp A G 3: 88,233,917 (GRCm39) Y258C probably damaging Het
Gm9195 G A 14: 72,711,626 (GRCm39) P329S probably damaging Het
Gpt A G 15: 76,583,199 (GRCm39) R379G probably benign Het
Gsdmc2 T C 15: 63,696,903 (GRCm39) T423A probably damaging Het
Hemgn T C 4: 46,397,054 (GRCm39) K61E possibly damaging Het
Ikzf4 A T 10: 128,479,759 (GRCm39) S56T possibly damaging Het
Jak1 T C 4: 101,032,332 (GRCm39) T425A probably benign Het
Jsrp1 T C 10: 80,646,319 (GRCm39) T80A probably benign Het
Klra9 T A 6: 130,165,643 (GRCm39) D124V possibly damaging Het
Lama5 A T 2: 179,843,970 (GRCm39) V397D probably damaging Het
Lrp2 A G 2: 69,302,877 (GRCm39) S2951P probably benign Het
Map7d1 A G 4: 126,149,808 (GRCm39) probably null Het
Mcm6 A T 1: 128,265,864 (GRCm39) C636S probably damaging Het
Mia T C 7: 26,880,358 (GRCm39) E39G possibly damaging Het
Mpeg1 T A 19: 12,440,258 (GRCm39) I572N probably damaging Het
Muc21 AGCTGGATGCAGTGGTGGTCAGGGTGGGTGTAGAGCCTGAGCCAGTGCTGGATACAGTGGTGGTC AGCTGGATACAGTGGTGGTC 17: 35,932,105 (GRCm39) probably benign Het
Muc6 AGGCGCAGAAACCCTGGC AGGC 7: 141,214,363 (GRCm39) probably null Het
Mup5 A G 4: 61,751,992 (GRCm39) Y86H probably damaging Het
Nckap5 A T 1: 125,954,104 (GRCm39) V816D probably benign Het
Nfib T C 4: 82,215,052 (GRCm39) probably null Het
Nlrc5 T A 8: 95,218,153 (GRCm39) V1056D possibly damaging Het
Nynrin G C 14: 56,110,190 (GRCm39) E1766Q probably damaging Het
Or7d9 A T 9: 20,197,100 (GRCm39) Y43F probably benign Het
Oxct1 T A 15: 4,123,524 (GRCm39) L328Q probably damaging Het
Pax5 T A 4: 44,679,485 (GRCm39) I187F possibly damaging Het
Pcdhb4 A T 18: 37,442,292 (GRCm39) D534V probably damaging Het
Pebp4 C T 14: 70,085,046 (GRCm39) P35S probably benign Het
Pkhd1l1 T A 15: 44,386,949 (GRCm39) V1274E possibly damaging Het
Plcz1 A T 6: 139,956,150 (GRCm39) V373D probably benign Het
Prag1 T C 8: 36,613,915 (GRCm39) C1156R probably benign Het
Ptprc T A 1: 138,045,600 (GRCm39) I87F probably benign Het
Rbp4 G A 19: 38,112,551 (GRCm39) T138I possibly damaging Het
Semp2l2b A G 10: 21,943,785 (GRCm39) L65P probably damaging Het
Slc12a1 A T 2: 125,042,542 (GRCm39) N733Y possibly damaging Het
Slc27a3 A G 3: 90,297,033 (GRCm39) V22A probably benign Het
Tcaf1 T C 6: 42,651,973 (GRCm39) probably null Het
Tnc T C 4: 63,889,392 (GRCm39) probably null Het
Tspan31 A T 10: 126,903,987 (GRCm39) *211R probably null Het
Ttc17 A T 2: 94,192,773 (GRCm39) V86D possibly damaging Het
Ubr1 T A 2: 120,734,558 (GRCm39) N1114I possibly damaging Het
Ulk2 C T 11: 61,674,457 (GRCm39) G850R probably benign Het
Vmn1r13 T A 6: 57,187,141 (GRCm39) I100N probably benign Het
Zan T C 5: 137,426,240 (GRCm39) D2512G unknown Het
Zc3h14 A T 12: 98,737,615 (GRCm39) N34I probably damaging Het
Zcwpw1 T G 5: 137,810,346 (GRCm39) L374R probably damaging Het
Zfp747l1 A T 7: 126,983,518 (GRCm39) I528K possibly damaging Het
Other mutations in Plxnb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00593:Plxnb1 APN 9 108,942,936 (GRCm39) missense probably benign 0.04
IGL01014:Plxnb1 APN 9 108,935,102 (GRCm39) missense probably benign 0.00
IGL01142:Plxnb1 APN 9 108,931,765 (GRCm39) missense probably benign 0.05
IGL01454:Plxnb1 APN 9 108,942,422 (GRCm39) missense probably damaging 1.00
IGL01469:Plxnb1 APN 9 108,934,483 (GRCm39) intron probably benign
IGL01530:Plxnb1 APN 9 108,939,473 (GRCm39) missense probably benign 0.02
IGL01599:Plxnb1 APN 9 108,939,672 (GRCm39) missense probably damaging 1.00
IGL01968:Plxnb1 APN 9 108,930,052 (GRCm39) missense probably benign 0.00
IGL02175:Plxnb1 APN 9 108,929,914 (GRCm39) missense possibly damaging 0.85
IGL02216:Plxnb1 APN 9 108,929,918 (GRCm39) missense probably damaging 1.00
IGL02277:Plxnb1 APN 9 108,941,201 (GRCm39) missense probably damaging 1.00
IGL02311:Plxnb1 APN 9 108,930,190 (GRCm39) missense probably benign
IGL02645:Plxnb1 APN 9 108,943,311 (GRCm39) splice site probably benign
IGL03076:Plxnb1 APN 9 108,935,970 (GRCm39) missense probably damaging 0.96
IGL03107:Plxnb1 APN 9 108,934,054 (GRCm39) missense probably benign
IGL03343:Plxnb1 APN 9 108,943,780 (GRCm39) missense probably damaging 1.00
PIT4431001:Plxnb1 UTSW 9 108,929,786 (GRCm39) missense probably damaging 1.00
R0117:Plxnb1 UTSW 9 108,934,286 (GRCm39) missense possibly damaging 0.93
R0211:Plxnb1 UTSW 9 108,932,731 (GRCm39) nonsense probably null
R0211:Plxnb1 UTSW 9 108,932,731 (GRCm39) nonsense probably null
R0843:Plxnb1 UTSW 9 108,942,769 (GRCm39) missense probably benign 0.20
R0970:Plxnb1 UTSW 9 108,932,331 (GRCm39) missense probably damaging 1.00
R0973:Plxnb1 UTSW 9 108,931,210 (GRCm39) missense possibly damaging 0.47
R1342:Plxnb1 UTSW 9 108,929,720 (GRCm39) missense possibly damaging 0.87
R1386:Plxnb1 UTSW 9 108,930,091 (GRCm39) missense probably benign 0.27
R1419:Plxnb1 UTSW 9 108,943,454 (GRCm39) missense probably damaging 1.00
R1445:Plxnb1 UTSW 9 108,937,989 (GRCm39) missense probably null
R1548:Plxnb1 UTSW 9 108,929,968 (GRCm39) missense possibly damaging 0.95
R1621:Plxnb1 UTSW 9 108,935,873 (GRCm39) missense probably benign 0.04
R1658:Plxnb1 UTSW 9 108,931,939 (GRCm39) nonsense probably null
R1727:Plxnb1 UTSW 9 108,930,125 (GRCm39) splice site probably null
R1750:Plxnb1 UTSW 9 108,940,836 (GRCm39) missense probably benign 0.00
R1795:Plxnb1 UTSW 9 108,929,813 (GRCm39) missense probably benign
R1929:Plxnb1 UTSW 9 108,931,776 (GRCm39) splice site probably null
R1935:Plxnb1 UTSW 9 108,924,715 (GRCm39) critical splice donor site probably null
R1936:Plxnb1 UTSW 9 108,924,715 (GRCm39) critical splice donor site probably null
R2014:Plxnb1 UTSW 9 108,935,687 (GRCm39) splice site probably benign
R2057:Plxnb1 UTSW 9 108,938,294 (GRCm39) missense possibly damaging 0.71
R2102:Plxnb1 UTSW 9 108,944,810 (GRCm39) missense probably damaging 1.00
R2271:Plxnb1 UTSW 9 108,931,776 (GRCm39) splice site probably null
R2422:Plxnb1 UTSW 9 108,937,506 (GRCm39) missense probably benign 0.02
R2881:Plxnb1 UTSW 9 108,943,480 (GRCm39) missense probably damaging 1.00
R3409:Plxnb1 UTSW 9 108,935,681 (GRCm39) splice site probably null
R3417:Plxnb1 UTSW 9 108,929,828 (GRCm39) missense probably damaging 0.97
R3756:Plxnb1 UTSW 9 108,942,526 (GRCm39) unclassified probably benign
R3788:Plxnb1 UTSW 9 108,938,355 (GRCm39) missense possibly damaging 0.89
R3789:Plxnb1 UTSW 9 108,938,355 (GRCm39) missense possibly damaging 0.89
R4042:Plxnb1 UTSW 9 108,934,241 (GRCm39) missense probably benign 0.00
R4289:Plxnb1 UTSW 9 108,943,420 (GRCm39) missense probably damaging 1.00
R4396:Plxnb1 UTSW 9 108,929,291 (GRCm39) missense possibly damaging 0.51
R4564:Plxnb1 UTSW 9 108,942,488 (GRCm39) missense probably benign 0.10
R4676:Plxnb1 UTSW 9 108,939,503 (GRCm39) missense possibly damaging 0.63
R4706:Plxnb1 UTSW 9 108,941,096 (GRCm39) missense probably damaging 1.00
R4792:Plxnb1 UTSW 9 108,939,716 (GRCm39) missense probably damaging 1.00
R4796:Plxnb1 UTSW 9 108,943,663 (GRCm39) missense probably damaging 1.00
R4835:Plxnb1 UTSW 9 108,934,442 (GRCm39) missense probably damaging 0.96
R4901:Plxnb1 UTSW 9 108,934,027 (GRCm39) missense probably benign 0.01
R4952:Plxnb1 UTSW 9 108,943,904 (GRCm39) missense probably damaging 1.00
R5005:Plxnb1 UTSW 9 108,935,647 (GRCm39) missense probably benign 0.00
R5015:Plxnb1 UTSW 9 108,929,498 (GRCm39) missense possibly damaging 0.95
R5029:Plxnb1 UTSW 9 108,943,723 (GRCm39) missense probably damaging 1.00
R5180:Plxnb1 UTSW 9 108,940,761 (GRCm39) splice site probably null
R5256:Plxnb1 UTSW 9 108,943,661 (GRCm39) missense probably damaging 1.00
R5285:Plxnb1 UTSW 9 108,937,527 (GRCm39) missense probably damaging 0.99
R5431:Plxnb1 UTSW 9 108,929,840 (GRCm39) missense probably damaging 1.00
R5444:Plxnb1 UTSW 9 108,935,521 (GRCm39) missense probably benign 0.22
R5546:Plxnb1 UTSW 9 108,929,818 (GRCm39) missense probably damaging 1.00
R5852:Plxnb1 UTSW 9 108,935,518 (GRCm39) missense probably damaging 1.00
R5892:Plxnb1 UTSW 9 108,940,775 (GRCm39) missense probably damaging 1.00
R6020:Plxnb1 UTSW 9 108,945,679 (GRCm39) missense probably damaging 1.00
R6053:Plxnb1 UTSW 9 108,940,775 (GRCm39) missense probably damaging 1.00
R6177:Plxnb1 UTSW 9 108,931,993 (GRCm39) splice site probably null
R6193:Plxnb1 UTSW 9 108,933,971 (GRCm39) missense probably benign
R6274:Plxnb1 UTSW 9 108,941,209 (GRCm39) critical splice donor site probably null
R6310:Plxnb1 UTSW 9 108,938,796 (GRCm39) missense probably damaging 0.96
R6404:Plxnb1 UTSW 9 108,945,705 (GRCm39) missense probably damaging 1.00
R6422:Plxnb1 UTSW 9 108,937,992 (GRCm39) missense probably damaging 1.00
R6479:Plxnb1 UTSW 9 108,940,733 (GRCm39) missense possibly damaging 0.92
R6555:Plxnb1 UTSW 9 108,937,473 (GRCm39) critical splice acceptor site probably null
R6646:Plxnb1 UTSW 9 108,937,895 (GRCm39) missense probably benign
R6648:Plxnb1 UTSW 9 108,933,398 (GRCm39) missense probably benign 0.14
R6661:Plxnb1 UTSW 9 108,933,367 (GRCm39) missense possibly damaging 0.94
R6674:Plxnb1 UTSW 9 108,937,214 (GRCm39) missense probably benign 0.00
R6734:Plxnb1 UTSW 9 108,937,988 (GRCm39) nonsense probably null
R6859:Plxnb1 UTSW 9 108,935,838 (GRCm39) missense probably damaging 1.00
R6948:Plxnb1 UTSW 9 108,945,702 (GRCm39) missense probably damaging 0.96
R7030:Plxnb1 UTSW 9 108,941,375 (GRCm39) missense probably damaging 1.00
R7038:Plxnb1 UTSW 9 108,929,453 (GRCm39) missense probably damaging 1.00
R7427:Plxnb1 UTSW 9 108,937,236 (GRCm39) missense probably benign 0.01
R7428:Plxnb1 UTSW 9 108,937,236 (GRCm39) missense probably benign 0.01
R7443:Plxnb1 UTSW 9 108,943,675 (GRCm39) missense probably damaging 1.00
R7527:Plxnb1 UTSW 9 108,929,929 (GRCm39) missense probably damaging 0.99
R7645:Plxnb1 UTSW 9 108,943,480 (GRCm39) missense probably damaging 1.00
R7680:Plxnb1 UTSW 9 108,929,571 (GRCm39) nonsense probably null
R7866:Plxnb1 UTSW 9 108,929,525 (GRCm39) missense probably damaging 0.98
R7898:Plxnb1 UTSW 9 108,943,408 (GRCm39) missense probably damaging 1.00
R7905:Plxnb1 UTSW 9 108,938,300 (GRCm39) missense probably damaging 1.00
R8092:Plxnb1 UTSW 9 108,929,573 (GRCm39) missense probably damaging 1.00
R8150:Plxnb1 UTSW 9 108,941,146 (GRCm39) missense probably damaging 0.98
R8286:Plxnb1 UTSW 9 108,935,870 (GRCm39) missense probably damaging 1.00
R8290:Plxnb1 UTSW 9 108,938,687 (GRCm39) missense probably benign 0.00
R8987:Plxnb1 UTSW 9 108,937,178 (GRCm39) splice site probably benign
R9176:Plxnb1 UTSW 9 108,941,651 (GRCm39) missense probably damaging 1.00
R9231:Plxnb1 UTSW 9 108,934,286 (GRCm39) missense possibly damaging 0.59
R9698:Plxnb1 UTSW 9 108,925,251 (GRCm39) start gained probably benign
Z1177:Plxnb1 UTSW 9 108,937,989 (GRCm39) missense possibly damaging 0.70
Predicted Primers PCR Primer
(F):5'- TACCTGTAGACCTGCGATCAC -3'
(R):5'- GCTTGGGGACATTCATCAGG -3'

Sequencing Primer
(F):5'- AGGAGAAGCATCTTGGTCCTC -3'
(R):5'- CATTCATCAGGTATCACAGGTGGC -3'
Posted On 2019-06-26